A citation-based method for searching scientific literature

Jill A Rosenfeld, Ryan N Traylor, G Bradley Schaefer, Elizabeth W McPherson, Blake C Ballif, Eva Klopocki, Stefan Mundlos, Lisa G Shaffer, Arthur S Aylsworth. Eur J Hum Genet 2012
Times Cited: 63







List of co-cited articles
496 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K Maloney, John A Crolla, Diana Baralle,[...]. N Engl J Med 2008
517
65

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi,[...]. Nat Genet 2008
393
58

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone,[...]. Nat Genet 2012
254
39

Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Raphael Bernier, Kyle J Steinman, Beau Reilly, Arianne Stevens Wallace, Elliott H Sherr, Nicholas Pojman, Heather C Mefford, Jennifer Gerdts, Rachel Earl, Ellen Hanson,[...]. Genet Med 2016
76
26

Large recurrent microdeletions associated with schizophrenia.
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
25

1q21.1 Microduplication expression in adults.
Alessia Dolcetti, Candice K Silversides, Christian R Marshall, Anath C Lionel, Dimitri J Stavropoulos, Stephen W Scherer, Anne S Bassett. Genet Med 2013
61
24

The exon junction complex component Magoh controls brain size by regulating neural stem cell division.
Debra L Silver, Dawn E Watkins-Chow, Karisa C Schreck, Tarran J Pierfelice, Denise M Larson, Anthony J Burnetti, Hung-Jiun Liaw, Kyungjae Myung, Christopher A Walsh, Nicholas Gaiano,[...]. Nat Neurosci 2010
111
22


Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.
Hanqian Mao, Louis-Jan Pilaz, John J McMahon, Christelle Golzio, Danwei Wu, Lei Shi, Nicholas Katsanis, Debra L Silver. J Neurosci 2015
49
26

A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
807
19

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Eva Klopocki, Harald Schulze, Gabriele Strauss, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A Newbury-Ecob, Luitgard M Neumann,[...]. Am J Hum Genet 2007
199
19

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino,[...]. N Engl J Med 2012
357
19

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Rachel Soemedi, Ana Topf, Ian J Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya,[...]. Hum Mol Genet 2012
73
19

An eIF4AIII-containing complex required for mRNA localization and nonsense-mediated mRNA decay.
Isabel M Palacios, David Gatfield, Daniel St Johnston, Elisa Izaurralde. Nature 2004
274
15

The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus.
Guramrit Singh, Alper Kucukural, Can Cenik, John D Leszyk, Scott A Shaffer, Zhiping Weng, Melissa J Moore. Cell 2012
208
15

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Lam S Nguyen, Hyung-Goo Kim, Jill A Rosenfeld, Yiping Shen, James F Gusella, Yves Lacassie, Lawrence C Layman, Lisa G Shaffer, Jozef Gécz. Hum Mol Genet 2013
73
15

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
M Cristina Digilio, Laura Bernardini, Federica Consoli, Francesca R Lepri, M Grazia Giuffrida, Anwar Baban, Cecilia Surace, Rosangela Ferese, Adriano Angioni, Antonio Novelli,[...]. Eur J Med Genet 2013
24
41

Estimates of penetrance for recurrent pathogenic copy-number variations.
Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
186
15

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
Francine P Favaro, Lucas Alvizi, Roseli M Zechi-Ceide, Debora Bertola, Temis M Felix, Josiane de Souza, Salmo Raskin, Stephen R F Twigg, Andrea M J Weiner, Pablo Armas,[...]. Am J Hum Genet 2014
57
17

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
Jesse Christiansen, John D Dyck, Basil G Elyas, Margaret Lilley, J Stephen Bamforth, Mark Hicks, Kathleen A Sprysak, Robert Tomaszewski, Shelagh M Haase, Leanne M Vicen-Wyhony,[...]. Circ Res 2004
105
14

The exon junction complex controls the splicing of MAPK and other long intron-containing transcripts in Drosophila.
Dariel Ashton-Beaucage, Christian M Udell, Hugo Lavoie, Caroline Baril, Martin Lefrançois, Pierre Chagnon, Patrick Gendron, Olivier Caron-Lizotte, Eric Bonneil, Pierre Thibault,[...]. Cell 2010
91
14

An EJC factor RBM8a regulates anxiety behaviors.
A Alachkar, D Jiang, M Harrison, Y Zhou, G Chen, Y Mao. Curr Mol Med 2013
28
32

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Patrick S Tarpey, F Lucy Raymond, Lam S Nguyen, Jayson Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge, Sarah Edkins, Claire Stevens,[...]. Nat Genet 2007
166
12


CLIP-seq of eIF4AIII reveals transcriptome-wide mapping of the human exon junction complex.
Jérôme Saulière, Valentine Murigneux, Zhen Wang, Emélie Marquenet, Isabelle Barbosa, Olivier Le Tonquèze, Yann Audic, Luc Paillard, Hugues Roest Crollius, Hervé Le Hir. Nat Struct Mol Biol 2012
127
12

Analysis of copy number variations at 15 schizophrenia-associated loci.
Elliott Rees, James T R Walters, Lyudmila Georgieva, Anthony R Isles, Kimberly D Chambert, Alexander L Richards, Gerwyn Mahoney-Davies, Sophie E Legge, Jennifer L Moran, Steven A McCarroll,[...]. Br J Psychiatry 2014
223
12

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
415
12

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
Cornelis A Albers, Ruth Newbury-Ecob, Willem H Ouwehand, Cedric Ghevaert. Curr Opin Genet Dev 2013
39
20

A critical role of RBM8a in proliferation and differentiation of embryonic neural progenitors.
Donghua Zou, Colleen McSweeney, Aswathy Sebastian, Derrick James Reynolds, Fengping Dong, Yijing Zhou, Dazhi Deng, Yonggang Wang, Long Liu, Jun Zhu,[...]. Neural Dev 2015
25
32

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Andrew J Sharp, Sierra Hansen, Rebecca R Selzer, Ze Cheng, Regina Regan, Jane A Hurst, Helen Stewart, Sue M Price, Edward Blair, Raoul C Hennekam,[...]. Nat Genet 2006
431
11

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G Mulle, Stephen T Warren,[...]. Genet Med 2011
288
11


The penetrance of copy number variations for schizophrenia and developmental delay.
George Kirov, Elliott Rees, James T R Walters, Valentina Escott-Price, Lyudmila Georgieva, Alexander L Richards, Kimberly D Chambert, Gerwyn Davies, Sophie E Legge, Jennifer L Moran,[...]. Biol Psychiatry 2014
201
11

Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family.
Judith M A Verhagen, Nicole de Leeuw, Dimitri N M Papatsonis, Els W M Grijseels, Ronald R de Krijger, Marja W Wessels. Mol Syndromol 2015
11
63

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
F Laumonnier, C Shoubridge, C Antar, L S Nguyen, H Van Esch, T Kleefstra, S Briault, J P Fryns, B Hamel, J Chelly,[...]. Mol Psychiatry 2010
71
9

The EJC factor eIF4AIII modulates synaptic strength and neuronal protein expression.
Corinna Giorgi, Gene W Yeo, Martha E Stone, Donald B Katz, Christopher Burge, Gina Turrigiano, Melissa J Moore. Cell 2007
208
9



DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Laura J Dumas, Majesta S O'Bleness, Jonathan M Davis, C Michael Dickens, Nathan Anderson, J G Keeney, Jay Jackson, Megan Sikela, Armin Raznahan, Jay Giedd,[...]. Am J Hum Genet 2012
69
9

The hierarchy of exon-junction complex assembly by the spliceosome explains key features of mammalian nonsense-mediated mRNA decay.
Niels H Gehring, Styliani Lamprinaki, Matthias W Hentze, Andreas E Kulozik. PLoS Biol 2009
86
9


De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Steven C Greenway, Alexandre C Pereira, Jennifer C Lin, Steven R DePalma, Samuel J Israel, Sonia M Mesquita, Emel Ergul, Jessie H Conta, Joshua M Korn, Steven A McCarroll,[...]. Nat Genet 2009
297
9

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Rachel Soemedi, Ian J Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zelenika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier Granados-Riveron,[...]. Am J Hum Genet 2012
183
9

Two mammalian MAGOH genes contribute to exon junction complex composition and nonsense-mediated decay.
Kusum K Singh, Laurens Wachsmuth, Andreas E Kulozik, Niels H Gehring. RNA Biol 2013
32
18

Generation of a Magoh conditional allele in mice.
John J McMahon, Lei Shi, Debra L Silver. Genesis 2014
14
42

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications.
Douglas F Levinson, Jubao Duan, Sang Oh, Kai Wang, Alan R Sanders, Jianxin Shi, Nancy Zhang, Bryan J Mowry, Ann Olincy, Farooq Amin,[...]. Am J Psychiatry 2011
316
9

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.
Lina Basel-Vanagaite, Hadassa Goldberg-Stern, Aviva Mimouni-Bloch, Vered Shkalim, Detlef Böhm, Jürgen Kohlhase. J Child Neurol 2011
15
40

Transcriptome-wide modulation of splicing by the exon junction complex.
Zhen Wang, Valentine Murigneux, Hervé Le Hir. Genome Biol 2014
53
11

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
Valentina Guida, Rosangela Ferese, Marcella Rocchetti, Monica Bonetti, Anna Sarkozy, Serena Cecchetti, Vania Gelmetti, Francesca Lepri, Massimiliano Copetti, Giuseppe Lamorte,[...]. Eur J Hum Genet 2013
25
24

Understanding the impact of 1q21.1 copy number variant.
Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Eva Chow, Sally Martell, Christine Tyson, Monica Hrynchak, Barbara McGillivray,[...]. Orphanet J Rare Dis 2011
40
15


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.